目的　探讨毛发鼻指（趾）骨综合征（TRPS）患儿的遗传学病因。方法　回顾分析1例患儿的临床及基因检测 资料。结果　患儿，男， 4岁9个月，自幼喂养困难，多次患手足口病。身材矮小，眉毛、头发稀疏，梨形鼻。骨X片示指骨骨 骺呈锥形，部分骨骺提前融合。可乐定激发试验生长激素峰值28.17 ng/mL。高通量测序及Sanger测序方法验证显示，患儿 TRPS1基因（NM_014112.4）存在无义变异c.1338C＞A，P.Tyr446X（杂合），为新生突变，国内外尚未见报道。根据ACMG 序列变异解读标准与指南判定为致病变异。结论　TRPS常见特征性矮小。此例患儿TRPS1基因突变位点为首次报道。

　Objective　To explore the genetic etiology of tricho-rhino-phalanseal syndrome (TRPS). Methods　The clinical and genetic testing data from a child were retrospectively analyzed. Results　The 4 years and 9 months old boy presented with short stature and difficult to feed，He has suffered from hand-foot-mouth disease（HFMD） many times and has sparse eyebrows and hair and pear-shaped nose. X-ray examination showed that his phalanx bones were tapered, and some bones were merged advance. The GH peak value of clonidine excitation test is 28.17 ng/mL，The genomic DNA of the child and his parents were extracted，The sequencing method was constructed by Agilent SureSelect method, and high-throughput sequencing was performed on the Illumina platform and verified by Sanger sequencing. The child's TRPS1 gene (NM_014112.4) was found to have "nonsense mutation c.1338C>A, P.Tyr446X (heterozygous)" as a new mutation, which has not been reported at home and abroad. It is determined as a pathogenic mutation according to the interpretation criteria and guidelines of ACMG sequence variation. Conclusion　Short stature is a common feature of TRPS, This mutation site of the TRPS1 gene in this case is the first report.